rs397514469

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397514469(A;A)

Make rs397514469(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

58975076

Gene

PDE4D

is a	snp
is	mentioned by
dbSNP	rs397514469
dbSNP (classic)	rs397514469
ClinGen	rs397514469
ebi	rs397514469
HLI	rs397514469
Exac	rs397514469
Gnomad	rs397514469
Varsome	rs397514469
LitVar	rs397514469
Map	rs397514469
PheGenI	rs397514469
Biobank	rs397514469
1000 genomes	rs397514469
hgdp	rs397514469
ensembl	rs397514469
geneview	rs397514469
scholar	rs397514469
google	rs397514469
pharmgkb	rs397514469
gwascentral	rs397514469
openSNP	rs397514469
23andMe	rs397514469
SNPshot	rs397514469
SNPdbe	rs397514469
MSV3d	rs397514469
GWAS Ctlg	rs397514469

Max Magnitude

0

ClinVar
Risk	rs397514469(A;A)
Alt	rs397514469(A;A)
Reference	Rs397514469(G;G)
Significance	Pathogenic
Disease	Acrodysostosis 2
Variation	info
Gene	PDE4D
CLNDBN	Acrodysostosis 2, with or without hormone resistance
Reversed	1
HGVS	NC_000005.9:g.58270903C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022941.5,